Works matching IS 10597794 AND DT 2004 AND VI 23 AND IP 6

Results: 22

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 629, doi. 10.1002/humu.9245

By:

Luca, Alessandro De;
Schirinzi, Annalisa;
Buccino, Anna;
Bottillo, Irene;
Sinibaldi, Lorenzo;
Torrente, Isabella;
Ciavarella, Angela;
Dottorini, Tania;
Porciello, Roberto;
Giustini, Sandra;
Calvieri, Stefano;
Dallapiccola, Bruno

Publication type:

Article

Identification of a functional mutation in pp32r1 (ANP32C).

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 546, doi. 10.1002/humu.20030

By:

Kochevar, G. John;
Brody, Jonathan R.;
Kadkol, ShriHari S.;
Murphy, Kathleen M.;
Pasternack, Gary R.

Publication type:

Article

An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 621, doi. 10.1002/humu.20045

By:

Moutereau, Stéphane;
Narwa, Rémy;
Matheron, Catherine;
Vongmany, Natalie;
Simon, Emmanuelle;
Goossens, Michel

Publication type:

Article

PromoLign: A database for upstream region analysis and SNPs.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 534, doi. 10.1002/humu.20049

By:

Zhao, Tao;
Chang, Li-Wei;
McLeod, Howard L.;
Stormo, Gary D.

Publication type:

Article

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 632, doi. 10.1002/humu.9252

By:

Broccolini, Aldobrando;
Ricci, Enzo;
Cassandrini, Denise;
Gliubizzi, Carla;
Bruno, Claudio;
Tonoli, Emmanuel;
Silvestri, Gabriella;
Pescatori, Mario;
Rodolico, Carmelo;
Sinicropi, Stefano;
Servidei, Serenella;
Zara, Federico;
Minetti, Carlo;
Tonali, Pietro A.;
Mirabella, Massimiliano

Publication type:

Article

Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 629, doi. 10.1002/humu.9246

By:

Zhang, Xue-Jun;
He, Ping-Ping;
Li, Ming;
He, Chun-Di;
Yan, Kai-Lin;
Cui, Yong;
Yang, Sen;
Zhang, Kai-Yue;
Gao, Min;
Chen, Jian-Jun;
Li, Cheng-Rang;
Jin, Lin;
Chen, Hong-Duo;
Xu, Shi-Jie;
Huang, Wei

Publication type:

Article

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 631, doi. 10.1002/humu.9249

By:

Orendáè, Marek;
Pronicka, Ewa;
Kubalska, Jolanta;
Janosik, Miroslav;
Sokolová, Jitka;
Linnebank, Michael;
Koch, Hans Georg;
Kožich, Viktor

Publication type:

Article

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 576, doi. 10.1002/humu.20040

By:

Cosma, Maria Pia;
Pepe, Stefano;
Parenti, Giancarlo;
Settembre, Carmine;
Annunziata, Ida;
Wade-Martins, Richard;
Domenico, Carmela Di;
Natale, Paola Di;
Mankad, Anuj;
Cox, Barbara;
Uziel, Graziella;
Mancini, Grazia M.S.;
Zammarchi, Enrico;
Donati, Maria Alice;
Kleijer, Wim J.;
Filocamo, Mirella;
Carrozzo, Romeo;
Carella, Massimo;
Ballabio, Andrea

Publication type:

Article

Denaturing high-performance liquid chromatography (DHPLC) as a reliable high-throughput prescreening method for aberrant promoter methylation in cancer.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 612, doi. 10.1002/humu.20033

By:

Betz, Beate;
Florl, Andrea R.;
Seifert, Hans-Helge;
Dall, Peter;
Schulz, Wolfgang A.;
Niederacher, Dieter

Publication type:

Article

The androgen receptor gene mutations database (ARDB): 2004 update.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 527, doi. 10.1002/humu.20044

By:

Gottlieb, Bruce;
Beitel, Lenore K.;
Wu, Jian Hui;
Trifiro, Mark

Publication type:

Article

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 559, doi. 10.1002/humu.20037

By:

Muschol, Nicole;
Storch, Stephan;
Ballhausen, Diana;
Beesley, Clare;
Westermann, Jan-Christoph;
Gal, Andreas;
Ullrich, Kurt;
Hopwood, John J.;
Winchester, Bryan;
Braulke, Thomas

Publication type:

Article

Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 582, doi. 10.1002/humu.20048

By:

Chang, Eugene H.;
Menezes, Maithilee;
Meyer, Nicole C.;
Cucci, Robert A.;
Vervoort, Virginie S.;
Schwartz, Charles E.;
Smith, Richard J.H.

Publication type:

Article

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 632, doi. 10.1002/humu.9251

By:

Morisaki, Hiroko;
Nakanishi, Norifumi;
Kyotani, Shingo;
Takashima, Atsushi;
Tomoike, Hitonobu;
Morisaki, Takayuki

Publication type:

Article

Erratum: Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 629, doi. 10.1002/humu.9244

By:

Ries-Levavi, Liat;
Ish-Shalom, Tsofia;
Frydman, Moshe;
Lev, Dorit;
Cohen, Shirley;
Barkai, Gad;
Goldman, Boleslaw;
Byers, Peter;
Friedman, Eitan

Publication type:

Article

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 630, doi. 10.1002/humu.9248

By:

Opitz, Sven;
Käsmann-Kellner, Barbara;
Kaufmann, Markus;
Schwinger, Eberhard;
Zühlke, Christine

Publication type:

Article

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 552, doi. 10.1002/humu.20032

By:

Shimozawa, Nobuyuki;
Tsukamoto, Toshiro;
Nagase, Tomoko;
Takemoto, Yasuhiko;
Koyama, Naoki;
Suzuki, Yasuyuki;
Komori, Masayuki;
Osumi, Takashi;
Jeannette, Gootjes;
Wanders, Ronald J.A.;
Kondo, Naomi

Publication type:

Article

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and 'modifier' polymorphisms.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 567, doi. 10.1002/humu.20043

By:

Montfort, Magda;
Chabás, Amparo;
Vilageliu, Lluïsa;
Grinberg, Daniel

Publication type:

Article

Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase ( HPRT1) locus.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 599, doi. 10.1002/humu.20047

By:

Duan, Jianxin;
Nilsson, Lennart;
Lambert, Bo

Publication type:

Article

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 631, doi. 10.1002/humu.9250

By:

Tóth, Tímea;
Kupka, Susan;
Haack, Birgit;
Riemann, Kathrin;
Braun, Simone;
Fazakas, Ferenc;
Zenner, Hans-Peter;
Muszbek, László;
Blin, Nikolaus;
Pfister, Markus;
Sziklai, István

Publication type:

Article

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 630, doi. 10.1002/humu.9247

By:

Goldstein, Alisa M.

Publication type:

Article

General implications for CpG hot spot mutations: Methylation patterns of the human iduronate-2-sulfatase gene locus.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 590, doi. 10.1002/humu.20046

By:

Tomatsu, Shunji;
Orii, Koji O.;
Bi, Y.;
Gutierrez, Monica A.;
Nishioka, Tatsuo;
Yamaguchi, Seiji;
Kondo, Naomi;
Orii, Tadao;
Noguchi, Akihiko;
Sly, William S.

Publication type:

Article

Identification and characterization of ANKK1: A novel kinase gene closely linked to DRD2 on chromosome band 11q23.1.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 540, doi. 10.1002/humu.20039

By:

Neville, Matt J.;
Johnstone, Elaine C.;
Walton, Robert T.

Publication type:

Article